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Article

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.

Clinical genetics - 1 Sept 2008

Moore S J, Buckley D J, MacMillan A, Marshall H D, Steele L, Ray P N, Nawaz Z, Baskin B, Frecker M, Carr S M, Ives E, Parfrey P S

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are the commonest neurodegenerative disorders of children. The aims of this study were to determine the incidence of NCL in Newfoundland, identify the causative genes, and analyze the relationship between phenotype and genotype. Patients with NCL diagnosed between 1960 and 2005 were ascertained through the provincial genetics and pediatric neurology clinics. Fifty-two...

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Source

Identifiers

PMID: 18684116
DOI: 10.1111/j.1399-0004.2008.01054.x

Genes

NCL
CLN5
CLN6
CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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